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Infectious Complications of Li-Fraumeni Syndrome in the Context of Associated Malignancies—A Case Series and Review of Literature

Utsav Kapoor, J. Tallapalli, John N. Greene

Infectious Diseases in Clinical Practice, 2025

Abstract

Li-Fraumeni syndrome (LFS) is a rare genetic disorder characterized by a predisposition to a variety of cancers due to the mutation in the protein TP53. The association between LFS and increased susceptibility to infections remains a currently underexplored area in the literature. In this report, we present 2 cases of patients with LFS who experienced both infectious and oncological complications due to their rare disorder. This includes a patient with persistent Enterococcus bacteremia, Aspergillus pneumonia, and refractory acute myeloid leukemia, and another patient with cellulitis unresponsive to antibiotics and stage IV adenocarcinoma. The main objective of these cases is to shed light on the variety of different cancers and infections associated with LFS and to highlight the importance of early recognition and aggressive treatment of infectious complications in LFS patients. Raising awareness of these topics is crucial to prevent the growth and spread of infections as a byproduct of oncologic treatments.

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